Canonical Allele Identifier: CA762236188

Gene: COL5A2

Linked Data

• dbSNP Id: rs1325984076
• gnomAD v3: 2-189098818-C-CA
• gnomAD v4: 2-189098818-C-CA
• MyVariant Identifiers: chr2:g.189963544_189963545insA (hg19) ; chr2:g.189098818_189098819insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098820dup , CM000664.2:g.189098820dup	GRCh38
NC_000002.11:g.189963546dup , CM000664.1:g.189963546dup	GRCh37
NC_000002.10:g.189671791dup	NCBI36
NG_011799.1:g.86061dup
NG_011799.2:g.86061dup
NG_011799.3:g.131483dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.370-60dup MANE Select	ENSP00000364000.3:n.370-60dup
ENST00000649966.1:c.232-60dup	ENSP00000496785.1:n.232-60dup
ENST00000374866.7:c.370-60dup	ENSP00000364000.3:n.370-60dup
ENST00000618828.1:c.-261-60dup	ENSP00000482184.1:n.-261-60dup
NM_000393.3:c.370-60dup	NP_000384.2:n.370-60dup
XM_011510573.1:c.232-60dup	XP_011508875.1:n.232-60dup
NM_000393.4:c.370-60dup	NP_000384.2:n.370-60dup
XM_011510573.3:c.232-60dup	XP_011508875.1:n.232-60dup
NM_000393.5:c.370-60dup MANE Select	NP_000384.2:n.370-60dup